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Transmission of germline TP53 mutations from male carriers to female partners
  1. Sophie Patrier-Sallebert1,
  2. Gaëlle Bougeard2,
  3. Stéphanie Baert-Desurmont2,3,
  4. Aude Lamy1,
  5. Jean-Michel Flaman2,
  6. Ludovic Mansuy4,
  7. Myriam Bronner5,
  8. Christine Lasset6,
  9. Laurence Brugières7,
  10. François Golfier8,
  11. Thierry Frebourg2,3
  1. 1Department of Pathology, University Hospital, Rouen, France
  2. 2Inserm U1079, University of Rouen, Institute for Research and Innovation in Biomedicine, Rouen, France
  3. 3Department of Genetics, University Hospital, Rouen, France
  4. 4Department of Pediatric Oncology, University Hospital, Nancy, France
  5. 5Department of Genetics, University Hospital, Nancy, France
  6. 6Department of Genetics, Comprehensive Cancer Centre Léon Bérard, Lyon, France
  7. 7Department of Pediatrics, Gustave Roussy Institute, Villejuif, France
  8. 8French Trophoblastic Disease Reference Centre, University Hospital, Lyon, France
  1. Correspondence to Professor Thierry Frebourg, Inserm U1079, Faculty of Medicine, 22 boulevard Gambetta, 76183 Rouen cedex 1, France; frebourg{at}{at}

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Gestational choriocarcinoma (CC) represents the most aggressive form of gestational tumours. In Europe and North America, gestational CC occurs in approximately 1/50 000 deliveries.1 We report the detection, in a gestational CC developed in a female partner of a patient with Li-Fraumeni syndrome (LFS) (MIM #151623), of the germline TP53 mutation initially detected in this LFS patient. In the French LFS series, we identified 78 fathers who were carriers of a germline TP53 mutation. Among the 213 corresponding pregnancies, we found two other cases of gestational CC in their partners. We estimate that gestational CC occurs in approximately 1% of the deliveries in female partners of TP53 mutation carriers.

Gestational trophoblastic disease (GTD), which can occur after either abnormal or normal fertilisation, is characterised by the uncontrolled proliferation of trophoblastic cells normally producing the placenta. GTD includes premalignant (complete and partial hydatidiform moles) and malignant (invasive mole, gestational CC, placental-site trophoblastic and epithelioid trophoblastic tumours) lesions.1 We considered the diagnosis of LFS, a remarkable cancer predisposition characterised by the extent of tumour spectrum,2 in the family described in figure 1. The male index case had developed a cholangiocarcinoma at 37 years of age, …

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  • Contributors Data collection: SP-S, GB, SB-D and FG. Laboratory investigations: GB, AL and J-MF. Genetic counselling and patient care: LM, MB, CL and LB. Obtained funding: TF. Data interpretation and drafting of the manuscript: TF, SP-S and GB.

  • Competing interests None.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.